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Sickle cell disease is closely related to another mutant haemoglobin called haemoglobin C (HbC), because they can be inherited together. [20] HbC mutation is at the same position in HbS, but glutamic acid is replaced by lysine (β6Glu→Lys). The mutation is particularly prevalent in West African populations.
Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. [1] The most common form is infantile Tay–Sachs disease, which becomes apparent around the age of three to six months of age, with the baby losing the ability to turn over, sit, or crawl. [1]
Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape.
In persons with sickle cell disease, high levels of fetal hemoglobin as found in a newborn or as found abnormally in persons with hereditary persistence of fetal hemoglobin, the HbF causes the sickle cell disease to be less severe. In essence the HbF inhibits polymerization of HbS. A similar mechanism occurs with persons who have sickle cell trait.
Overdominance is a phenomenon in genetics where the phenotype of the heterozygote lies outside the phenotypical range of both homozygous parents. Overdominance can also be described as heterozygote advantage regulated by a single genomic locus, wherein heterozygous individuals have a higher fitness than homozygous individuals.
Again, the result is reduced blood flow to the retina causing tissue damage. Sickle cell disease compromises blood flow by causing blood to sludge, or thicken and flow slowly, through the retinal arteries. Other disorders that cause hyperviscosity syndrome may also cause blood sludging.
A cell containing Pappenheimer bodies is a siderocyte. Reticulocytes often contain Pappenheimer bodies. They are mostly observed in diseases such as myelodysplastic syndrome (MDS), sideroblastic anemia, hemolytic anemia, lead poisoning and sickle cell disease. They can interfere with platelet counts when the analysis is performed by electro ...
Vaso-occlusive crisis is a common and painful complication of sickle cell disease that occurs when blood circulation is obstructed by sickled red blood cells (red cells are usually round and flexible, but sometimes many red cells in a person with sickle cell anemia will become rigid and crescent-shaped due to polymerization of hemoglobin). [11]